Phenotype #0000356467

Individual ID 00471660
Associated disease NDD
Diagnosis/Initial premature ovarian insufficiency
Diagnosis/Definite GAPOS
Phenotype details see paper; ..., menstrual irregularities; 14y-pubarche, thelarche; 15y-menarche; no diabetes, no hypertension, no endocrine disease; short stature, alopecia aerata, pseudoanodontia, epicanthic fold, hypertelorism, sparse eyebrows, sparse eyelashes, very protuberant lower lip; ocular anomalies glaucoma, mild ectropion, lagophthalmos, hypermetropy
Inheritance Familial, autosomal recessive
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-12-29 16:31:13 +01:00 (CET)
Date last edited N/A

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